A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613978



Internal ID6654186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:85072541..85125679hg38UCSC Ensembl
Innerchr7:85072541..85125679hg38UCSC Ensembl
Outerchr7:85072041..85126179hg38UCSC Ensembl
chr7:84701857..84754995hg19UCSC Ensembl
Innerchr7:84701857..84754995hg19UCSC Ensembl
Outerchr7:84701357..84755495hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3853139
hg1953139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12875295
SamplesHG04054
Known GenesSEMA3D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613978
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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